A novel double mutation in cis in MFN2 causes Charcot-Marie-Tooth neuropathy type 2A

Neurogenetics

Volumn 13, Issue 3, 2012, Pages 275-280

  Park, Su Yeon ^a   Kim, So Yeon ^a   Hong, Yoon Ho ^b   Cho, Sung Im ^a   Seong, Moon Woo ^a   Park, Sung Sup ^a  

^a Seoul National University Hospital   (South Korea)

^b Seoul National University College of Medicine   (South Korea)

Author keywords

Charcot Marie Tooth neuropathy; Double mutation in cis; Korean; MFN2

Indexed keywords

MITOFUSIN 2;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; HAPLOINSUFFICIENCY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CHARCOT-MARIE-TOOTH DISEASE; CHILD; ELECTROPHYSIOLOGY; EXONS; FEMALE; GENE DOSAGE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MOLECULAR BIOLOGY; MUTATION; MUTATION, MISSENSE; PEDIGREE; RNA, MESSENGER; TIME FACTORS; TRANSCRIPTION, GENETIC;

EID: 84864965847     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0327-8     Document Type: Article

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